CNR Institutional Research Information System

NOBILE, CARLO
 Distribuzione geografica
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Continente #
NA - Nord America 492
AS - Asia 140
EU - Europa 38
AF - Africa 1
SA - Sud America 1
Totale 672
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Nazione #
US - Stati Uniti d'America 492
SG - Singapore 132
IT - Italia 20
FI - Finlandia 7
NL - Olanda 3
SE - Svezia 3
HK - Hong Kong 2
IE - Irlanda 2
AL - Albania 1
AM - Armenia 1
AR - Argentina 1
AT - Austria 1
CN - Cina 1
DK - Danimarca 1
KG - Kirghizistan 1
MA - Marocco 1
PH - Filippine 1
PK - Pakistan 1
TH - Thailandia 1
Totale 672
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Città #
Santa Clara 451
Singapore 74
Helsinki 7
Rome 6
Padova 4
Hong Kong 2
Newark 2
Phoenix 2
Stockholm 2
Turin 2
Amsterdam 1
Bishkek 1
Buenos Aires 1
Dublin 1
Guangzhou 1
Islamabad 1
Longford 1
Los Angeles 1
Manila 1
Tirana 1
Vienna 1
Yerevan 1
Totale 564
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Nome #
Autosomal dominant lateral temporal lobe epilepsy associated with a novel reelin mutation 20
CNTNAP2 mutations and autosomal dominant epilepsy with auditory features 13
Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy 13
The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations 12
Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors 12
PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood. 11
Galanin pathogenic mutations in temporal lobe epilepsy 11
LGI1 dysfunction in inherited and acquired epileptic disorders 11
A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features 11
LGI1 tumor tissue expression and serum autoantibodies in patients with primary malignant glioma 11
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26 11
Psychiatric features in autosomal dominant lateral temporal epilepsy associated with LGI1 mutations 11
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy 11
Copy number variations and susceptibility to lateral temporal epilepsy: A study of 21 pedigrees 10
Low penetrance of autosomal dominant lateral temporal epilepsy in Italian families without LGI1 mutations 10
In response: DEPDC5 mutations in epilepsy with auditory features 10
Distribution of the epilepsy-related Lgi1 protein in rat cortical neuron. 10
Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy 10
Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras 10
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 10
Autosomal dominant essential tremor: A novel family with anticipation 10
DNA sequences of human Glucose 6-Phosphate Dehydrogenase cloned in pBR322 9
Low penetrance and effect on protein secretion of LGI1 mutations causing autosomal dominant lateral temporal epilepsy 9
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture 9
Familial mesial temporal lobe epilepsy (FMTLE): a clinical and genetic study of 15 Italian families. 9
The genetic basis of juvenile myoclonic epilepsy 9
Genetic variants of human Glucose 6-Phosphate Dehydrogenase (G6PD): studies of turnover and of G6PD specific mRNA 9
Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy 9
Epilessia parziale con sintomi uditivi: una sindrome a evoluzione benigna: studio clinico, genetico e prognostico di 53 casi sporadici. 8
Structural anomaly of left lateral temporal lobe in epilepsy due to mutated LGI1 8
Idiopathic mesial temporal lobe epilepsy: Don't sow the tares with the wheat! 8
X-linked muscular dystrophies: studies through functional assay and DNA polymorphisms. 8
Familial mesial temporal lobe epilepsy 8
RESTRICTION MAPPING OF YEAST ARTIFICIAL CHROMOSOMES BY UV-MEDIATED PARTIAL DIGESTION 8
Pulsed field gel electrophoresis study of the kariotype of some S. cerevisiae wine strains 8
Genetics of epilepsy and relevance to current practice 8
Identification and characterization of a novel human brain-specific gene, homologous to S. Scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia. 8
A Novel Loss-of-Function LGI1 Mutation Linked to Autosomal Dominant Lateral Temporal Epilepsy 8
Autosomal dominant lateral temporal epilepsy: absence of mutations in ADAM22 and Kv1 channel genes encoding LGI1-associated proteins 8
Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene 8
AN IMPROVED METHOD FOR PARTIAL RESTRICTION DIGESTION OF ULTRAVIOLET IRRADIATED DNA 8
The LGI1/Epitempin gene encodes two protein isoforms differentially expressed in human brain 8
Recent Advances of Haematology Immunology and Blood transfusion 8
A refined physical and EST map spanning 7.4 Mb of 10q24, a region involved in neurological disorders 8
Identification of a pkp2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy 8
Lateral temporal lobe epilepsies: clinical and genetic features. 7
Partial epilepsy with prominent auditory symptoms not linked to chromosome 10q 7
Detailed physical analysis of a 1.5-megabase YAC contig containing the MXI1 and ADRA2A genes 7
LGI1 microdeletion in autosomal dominant lateral temporal epilepsy 7
Idiopathic partial epilepsy with auditory features (IPEAF ) a clinical and genetic study of 53 sporadic cases 7
Familial lateral temporal lobe epilepsy. 7
CONCURRENT MAPPING OF AN ADENOVIRUS-5/SV40 INTEGRATION SITE AND THE U1 SNRNA CLUSTER (RNU1) WITHIN 400 KB OF THE CHROMOSOME REGION-1P36.1 7
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 7
A 2.4-MEGABASE PHYSICAL MAP SPANNING THE CYP2C GENE-CLUSTER ON CHROMOSOME 10Q24 7
NUCLEOSOME PHASING ON A DNA FRAGMENT FROM THE REPLICATION ORIGIN OF SV-40 AND REPHASING UPON CRUCIFORM FORMATION OF THE DNA 7
A PTG Variant Contributes to a Milder Phenotype in Lafora Disease 7
Analysis of 22 deletion breakpoints in dystrophin intron 49 7
ADAM23, a Gene Related to LGI1, Is Not Linked to Autosomal Dominant Lateral Temporal Epilepsy 7
A de novo LGl1 mutation in sporadic partial epilepsy with auditory features 7
GENOMIC ORGANIZATION OF THE HUMAN DYSTROPHIN GENE ACROSS THE MAJOR DELETION HOT-SPOT AND THE 3'-REGION 6
Drug resistant ADLTE and Recurrent partial status epilepticus with dysphasis features in a family with a novel LGI1 mutation: electroclinical, genetic, and EEG/fMRI findings. 6
Autosomal dominant partial epilepsy with auditory features: Description of a new family 6
The novel EPTP repeat defines a superfamily of proteins with implications in epileptic disorders 6
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 6
Telephone-induced seizures: a new type of reflex epilepsy 6
An integrated physical and genetic map spanning chromosome band 10q24 6
A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins 6
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures 6
Familial temporal lobe epilepsy|Epilessia temporale familiare 6
Exon-intron organization of the human dystrophin gene 6
MOLECULAR ANALYSIS OF THE RETT SYNDROME USING CDNA SYNAPSIN-I AS A PROBE 6
Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy 6
Familial epilepsy and developmental dysphasia: description of an Italian pedigree with autosomal dominant inheritance and screening of candidate loci. 6
Folate-sensitive fragile site FRA10A is due to and expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein 6
A REFINED RESTRICTION MAP OF YAC CLONES SPANNING THE ENTIRE HUMAN DYSTROPHIN GENE 6
Expression analysis of twenty-one transcripts physically anchored within the chromosomal region 10q24 6
Stable stem-loop and cruciform DNA stuctures: isolation of mutants with rearrangements of the palindromic sequence at the Simian Virus 40 replication origin 6
Familial epilepsy with auditory features associated with generalized abnormalities | Epilessia parziale familiare con sintomi uditivi associata ad anomalie generalizzate 6
PARTIAL DIGESTION WITH RESTRICTION ENZYMES OF UV-IRRADIATED HUMAN GENOMIC DNA A METHOD FOR IDENTIFYING RESTRICTION SITE POLYMORPHISMS 6
Other possible familial focal epilepsy not yet recognized by the ILAE. 6
ANALYSIS OF DELETIONS IN DNA FROM PATIENTS WITH BECKER AND DUCHENNE MUSCULAR DYSTROPHY 6
Familial focal epilepsy with vertiginous aura: A new entity?|Epilessia focale familiare con sintomi vertiginosi: Una nuova forma di epilessia focale ereditaria? 6
Monogenic epilepsies due to mutations of genes that do not code for ion channels: autosomal dominant lateral temporal epilepsy 5
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation 5
null 3
Epilepsy-causing Reelin mutations result in impaired secretion and intracellular degradation of mutant proteins 1
Totale 687
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Categoria #
all - tutte 2.860
article - articoli 2.615
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 245
Totale 5.720
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/20242 0 0 0 0 0 0 0 0 1 0 1 0
2024/2025685 3 3 79 47 444 11 22 53 23 0 0 0
Totale 687